Cancer Family
Soft Tissue Neoplasm
CI-CAN-00000354Explore in graph →
Loading cancer entity…
Cancer Family
CI-CAN-00000354Explore in graph →
Variants & evidence
382 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| KIT V560DEL1 | ||||||||
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4118In a retrospective study of 1124 sunitinib-treated gastrointestinal stromal tumor patients, patients with primary KIT exon 11 mutations (n=143) were associated with decreased progression free surviva… (full text at CIViC) PMID 26772734 · Reichardt et al., 2016 · Open in CIViC | civic |
| KIT V560G7 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID2467Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib. PMID 21364689 · Pierotti et al., 2011 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID2470Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib. PMID 21364689 · Pierotti et al., 2011 · Open in CIViC | civic |
| Imatinib + Ponatinib + RegorafenibSubstitutes | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | ||||
| KIT V560_L576del3 | ||||||||
| Imatinib + PonatinibSubstitutes | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | 4 | accepted | EID7393In the patient-derived cell line GIST430 harboring KIT V560_L576del primary activating mutation implanted in mice, imatinib and ponatinib were shown to reduce KIT phosphorylation compared to the vehic… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| Regorafenib Anhydrous | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID4061A GIST430 patient derived cell line expressing KIT V560_L576del primary activating mutation demonstrated insensitivity to regorafenib (IC50: 191nmol/L) treatment. IC50 was determined by assessing cell… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | ||||||
| KIT V569_L576DEL1 | ||||||||
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4602In a phase 1/2 trial of 97 gastrointestinal stromal tumor patients, patients with KIT exon 11 mutations (44/77) treated with sunitinib were associated with shorter progression free survival (5.1mo vs.… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC | civic |
| KIT V654A3 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | 3 | accepted | EID249KIT V654A results in imatinib resistance in GIST patient-derived cell lines. PMID 16954519 · Heinrich et al., 2006 · Open in CIViC | civic |
| Regorafenib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | 4 | submitted | EID4148In an in vitro study, Ba/F3 cell lines expressing different KIT primary mutations (known to confer sensitivity to regorafenib) and KIT V654A secondary mutation, KIT V654A was associated with decreased… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID304 | |
| KIT W557_E561del3 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID2437Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib. PMID 21364689 · Pierotti et al., 2011 · Open in CIViC | civic |
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4090In a phase 1/2 trial of 97 gastrointestinal stromal tumor patients, patients with KIT exon 11 mutations (44/77) treated with sunitinib were associated with shorter progression free survival (5.1mo vs.… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | ||
| KIT W557G2 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID2428Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib. PMID 21364689 · Pierotti et al., 2011 · Open in CIViC | civic |
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4078In a retrospective study of 1124 sunitinib-treated gastrointestinal stromal tumor patients, patients with primary KIT exon 11 mutations (n=143) were associated with decreased progression free surviva… (full text at CIViC) PMID 26772734 · Reichardt et al., 2016 · Open in CIViC | civic |
| KIT W557_K558del6 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID2434Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib. PMID 21364689 · Pierotti et al., 2011 · Open in CIViC | civic |
| Imatinib + PonatinibSubstitutes | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID4084In an in vitro study, an IL3 independent Ba/F3 cell line expressing KIT W557_K558del primary activating mutation demonstrated sensitivity to imatinib (IC50: 27nmol/L) and ponatinib (IC50: 3nmol/L) tre… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports | ||||
| KIT D820G + KIT W557_K558del2 | ||||||||
| Ponatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID7412Ponatinib possesses potent activity against D820G KIT mutant in preclinical experiments. PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| Regorafenib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | 2 | submitted | EID4165In an in vitro study, a Ba/F3 cell line expressing KIT W557_K558del primary mutation (known to confer sensitivity to regorafenib) and KIT D820G secondary mutation, KIT D820G was associated with decrea… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| KIT N822K + KIT W557_K558del2 | ||||||||
| Regorafenib Anhydrous | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | 3 | accepted | EID4169In a set of preclinical experiments associated with gastrointestinal stromal tumor, the effects of the tyrosine kinase inhibitor regorafenib on Ba/F3 cell lines harboring the primary regorafenib-sensi… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| Imatinib + SunitinibSubstitutes | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | 4 | accepted | EID7414Several preclinical studies tested the effects of various tyrosine kinase inhibitors (TKIs) on Ba/F3 cell lines with primary TKI-sensitizing del 557-558 mutation, which induced IL-3 independent growth… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| KIT W557R1 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID2426Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib. PMID 21364689 · Pierotti et al., 2011 · Open in CIViC | civic |
| KIT W557T1 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID2431Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib. PMID 21364689 · Pierotti et al., 2011 · Open in CIViC | civic |
| KIT W557_V559insC2 | ||||||||
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4460In a phase 1/2 trial of 97 gastrointestinal stromal tumor patients, patients with KIT exon 11 mutations (44/77) treated with sunitinib were associated with shorter progression free survival (5.1mo vs.… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4461In a retrospective study of 1124 sunitinib-treated gastrointestinal stromal tumor patients, patients with primary KIT exon 11 mutations (n=143) were associated with decreased progression free surviva… (full text at CIViC) PMID 26772734 · Reichardt et al., 2016 · Open in CIViC | civic |
| KIT Wildtype1 | ||||||||
| Regorafenib Anhydrous | Gastrointestinal Stromal Tumor | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID4144This phase II clinical trial of regorafenib (NCT01068769) examined the long term safety and efficacy of regorafenib in patients with metastatic and/or unresectable gastrointestinal stromal tumors (GIS… (full text at CIViC) PMID 27371698 · Ben-Ami et al., 2016 · Open in CIViC | civic |
| KIT Y503_F504insAY1 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | B | Supports Sensitivity Response | — | submitted | EID2394Patients with exon 9 mutations treated with a higher dose of imatinib (800mg vs. 400 mg daily) experienced improved progression-free survival compared to those treated with the standard dose (HR:0.392… (full text at CIViC) PMID 16624552 · Debiec-Rychter et al., 2006 · Open in CIViC | civic |
| KIT Y553D1 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID2407Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib. PMID 21364689 · Pierotti et al., 2011 · Open in CIViC | civic |
| KIT Y553_K558DEL3 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID2410Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib. PMID 21364689 · Pierotti et al., 2011 · Open in CIViC | civic |
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4067In a phase 1/2 trial of 97 gastrointestinal stromal tumor patients, patients with KIT exon 11 mutations (44/77) treated with sunitinib were associated with shorter progression free survival (5.1mo vs.… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | ||
| KIT Y553_W557DELYEVQW1 | ||||||||
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Sensitivity Response | — | submitted | EID4577In a retrospective study, a Chinese gastrointestinal stromal tumor patient harboring KIT Y553_W557delYEVQW deletion mutation (n=1/2) was associated with improved response to sunitinib treatment after … (full text at CIViC) PMID 23456621 · Gao et al., 2013 · Open in CIViC | civic |
| KIT Y570_L576DEL2 | ||||||||
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4586In a phase 1/2 trial of 97 gastrointestinal stromal tumor patients, patients with KIT exon 11 mutations (44/77) treated with sunitinib were associated with shorter progression free survival (5.1mo vs.… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4587In a retrospective study of 1124 sunitinib-treated gastrointestinal stromal tumor patients, patients with primary KIT exon 11 mutations (n=143) were associated with decreased progression free surviva… (full text at CIViC) PMID 26772734 · Reichardt et al., 2016 · Open in CIViC | civic |
| KIT Y823D1 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | 3 | accepted | EID2919147 patients with advanced, unresectable GISTs were enrolled onto a randomized, phase II clinical study of imatinib (CSTI571-B2222). Specimens from 43 pretreatment and/or imatinib-resistant tumors wer… (full text at CIViC) PMID 16954519 · Heinrich et al., 2006 · Open in CIViC | civic |
| KRAS K117N1 | ||||||||
| Vemurafenib | Clear Cell Sarcoma of Soft TissueALIAS | Predictive | D | Supports Resistance | — | submitted | EID4425In an in vitro study, A375 cell lines expressing BRAF V600E (a known sensitizing mutation to vemurafenib) and KRAS K117N co-mutations demonstrated reduced sensitivity to vemurafenib treatment, compare… (full text at CIViC) PMID 22205714 · Su et al., 2012 · Open in CIViC | civic |
| NTRK1 Fusion5 | ||||||||
| (diagnostic) | NTRK-Rearranged Spindle Cell NeoplasmALIAS | Diagnostic | C | Supports Positive | 4 | accepted | EID6391A 14-month-old boy presented with a slow-growing, asymptomatic back plaque, which was biopsied and found to have S100 positivity, sparse CD34 staining, and no significant mitotic activity, nuclear ple… (full text at CIViC) PMID 29892662 · Bartenstein et al., 2018 · Open in CIViC | civic |
| 〃 | NTRK-Rearranged Spindle Cell NeoplasmALIAS | Diagnostic | C | Supports Positive | 3 | accepted | EID11576A 31-year-old female presented with a pigmented nodule on her scalp that enlarged in size over a 2-year period. Biopsy demonstrated a fascicular proliferation of bland spindle cells within the dermis … (full text at CIViC) PMID 32519338 · Panse et al., 2021 · Open in CIViC | civic |
| 〃 | NTRK-Rearranged Spindle Cell Neoplasm | |||||||
Data updated 23 hours agoSource updated unknownsource: civic (CC0)
Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.
| 3 |
| accepted |
EID7395In an in vitro kinase study, a KIT V560G primary activating mutant kinase demonstrated sensitivity to imatinib (IC50: 38nmol/L vs. 640nmol/L), regorafenib (IC50: 27nmol/L vs. 533nmol/L), and ponatinib… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC |
| civic |
| Imatinib + Ponatinib + Regorafenib Anhydrous | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | 3 | rejected | EID7394In an in vitro kinase study, a KIT V560G primary activating mutant kinase demonstrated sensitivity to imatinib (IC50: 38nmol/L), regorafenib (IC50: 27nmol/L), and ponatinib (IC50: 0.3nmol/L) treatment… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4129In a phase 1/2 trial of 97 gastrointestinal stromal tumor patients, patients with KIT exon 11 mutations (44/77) treated with sunitinib were associated with shorter progression free survival (5.1mo vs.… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4130In a retrospective study of 1124 sunitinib-treated gastrointestinal stromal tumor patients, patients with primary KIT exon 11 mutations (n=143) were associated with decreased progression free surviva… (full text at CIViC) PMID 26772734 · Reichardt et al., 2016 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | E | Supports Sensitivity Response | 2 | rejected | EID7396In an in vitro kinase study, a KIT V560G primary activating mutant kinase demonstrated sensitivity to sunitinib (IC50: 154nmol/L vs. 110nmol/L) treatments. It is assumed that the native KIT mutation i… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| C |
| Supports Resistance |
| — |
| submitted |
EID4598In a retrospective study of 1124 sunitinib-treated gastrointestinal stromal tumor patients, patients with primary KIT exon 11 mutations (n=143) were associated with decreased progression free surviva… (full text at CIViC) PMID 26772734 · Reichardt et al., 2016 · Open in CIViC |
| civic |
In GIST tumor cells and patients harboring KIT V654A mutation, SU11248 is effective for those that are refractory to imatinib.
PMID 16638875 · Prenen et al., 2006 · Open in CIViC
| civic |
EID4091In a retrospective study of 1124 sunitinib-treated gastrointestinal stromal tumor patients, patients with primary KIT exon 11 mutations (n=143) were associated with decreased progression free surviva… (full text at CIViC) PMID 26772734 · Reichardt et al., 2016 · Open in CIViC |
| civic |
| 3 |
| accepted |
EID4082Patients 11, 69, and 73 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant gastrointestinal stromal tumors (GISTs) harbored a primary (pre-imatinib treatment) KIT… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC |
| civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4085In a retrospective study of 1124 sunitinib-treated gastrointestinal stromal tumor patients, patients with primary KIT exon 11 mutations (n=143) were associated with decreased progression free surviva… (full text at CIViC) PMID 26772734 · Reichardt et al., 2016 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | — | submitted | EID4083In an in vitro study, patient derived tumor cells expressing KIT W557_K558delWK in-frame deletion mutation (endogenous expression) demonstrated sensitivity to sunitinib treatment. Sensitivity was dete… (full text at CIViC) PMID 16638875 · Prenen et al., 2006 · Open in CIViC | civic |
| Regorafenib + SunitinibSubstitutes | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID4087In an in vitro study, an IL3 independent Ba/F3 cell line expressing KIT W557_K558del primary activating mutation demonstrated sensitivity to sunitinib (IC50: 7 +/- 2nmol/L) and regorafenib (IC50: 30 … (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
EID4068In a retrospective study of 1124 sunitinib-treated gastrointestinal stromal tumor patients, patients with primary KIT exon 11 mutations (n=143) were associated with decreased progression free surviva… (full text at CIViC) PMID 26772734 · Reichardt et al., 2016 · Open in CIViC |
| civic |
| Diagnostic |
| C |
| Supports Positive |
| 3 |
| accepted |
EID11577A 21-year-old man demonstrated intermittent abdominal pain, and a CT scan revealed an abnormal paraspinal lesion. Biopsy revealed a spindle cell mesenchymal tumor with monotonous, bland spindle cells … (full text at CIViC) PMID 32782782 · Dupuis et al., 2020 · Open in CIViC |
| civic |
| 〃 | NTRK-Rearranged Spindle Cell NeoplasmALIAS | Diagnostic | C | Supports Positive | 3 | accepted | EID11650A 3-year-old girl presented with spots on her right buttock that evolved into lumps. Magnetic resonance imaging showed diffuse subcutaneous tissue thickening without significant involvement of underly… (full text at CIViC) PMID 32299759 · Malik et al., 2020 · Open in CIViC | civic |
| Entrectinib | NTRK-Rearranged Spindle Cell NeoplasmALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID11578A 21-year-old man demonstrated intermittent abdominal pain, and a CT scan revealed an abnormal paraspinal lesion. IHC was positive for CD34, S-100, and pan-TRK and negative for Sox10. Anchored multip… (full text at CIViC) PMID 32782782 · Dupuis et al., 2020 · Open in CIViC | civic |